{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T16:01:41Z","timestamp":1790352101426,"version":"4.1.0"},"reference-count":0,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2008,5,20]],"date-time":"2008-05-20T00:00:00Z","timestamp":1211241600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2008,5,20]],"date-time":"2008-05-20T00:00:00Z","timestamp":1211241600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cytogenet Cell Genet"],"abstract":"<jats:p>Two steroid 5\u03b1-reductase isoenzymes catalyze the conversion of testosterone into dihydrotestosterone, the more bioactive androgen, which is essential for male phenotypic sexual differentiation and for androgen-mediated growth of such tissues and organs as the prostate. Inherited mutations in SRD5A2 cause male pseudohermaphroditism. The SRD5A1 and SRD5A2 genes encoding the steroid 5\u03b1-reductase type 1 and type 2 isoenzymes have been previously assigned by in situ hybridization to 5p15 and 2p23, respectively. To map the SRD5A2 gene by linkage analysis, a novel RsaI RFLP detected in exon I and a TA repeat polymorphism found in exon V were genotyped in eight CEPH reference families. A two-point linkage analysis was performed between these polymorphisms and the chromosome 2 microsatellite markers of G\u00e9n\u00e9thon and NIH\/CEPH. The closest linkage was observed with D2S352 (Z&lt;sub&gt;max&lt;\/sub&gt; = 24.06; \u0398&lt;sub&gt;max&lt;\/sub&gt; = 0.001) in the region 2p23\u2192p22. To further define the localization of SRD5A2, a framework map, including nine G\u00e9n\u00e9thon markers flanking the polymorphic SRD5A2 locus, was built by multipoint linkage analysis. This led to a high-resolution genetic map of the region flanking the polymorphic SRD5A2 gene, including the nine G\u00e9n\u00e9thon markers and three NIH\/CEPH markers, yielded the following order: tel-D2S48-D2S149-D2S320-D2S171-D2S165-[D2S352\/SRD5A2]-D2S367-[D2S19\/D2S177]-[D2S391\/ CALM]-D2S378-cen.<\/jats:p>","DOI":"10.1159\/000134362","type":"journal-article","created":{"date-parts":[[2008,5,21]],"date-time":"2008-05-21T10:14:19Z","timestamp":1211364859000},"page":"304-307","source":"Crossref","is-referenced-by-count":15,"title":["Genetic linkage mapping of the human steroid 5\u03b1-reductase type 2 gene (SRD5A2) close to D2S352 on chromosome region 2p23\u2192p22"],"prefix":"10.1159","author":[{"given":"J.","family":"Morissette","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Durocher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.-F.","family":"Leblanc","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Normand","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Labrie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Simard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2008,5,20]]},"container-title":["Cytogenetics and Cell Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/134362","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000134362","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T15:07:38Z","timestamp":1777475258000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000134362"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,5,20]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1159\/000134362","archive":["Portico"],"relation":{},"ISSN":["0301-0171","1421-9816"],"issn-type":[{"value":"0301-0171","type":"print"},{"value":"1421-9816","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,5,20]]}}}